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Analysis of BRCA gene missense mutations
2015
Journal of Biomedical Engineering and Informatics
With the significant progress in sequencing technologies over the last 10 years, a concomitant increase in the detection of variants of uncertain significance (VUSs) has been reported with an increasing amount of data. The interpretation of VUSs has been challenging due to the discordance of prediction results and their classification in different locus-specific databases (LSDBs). The evolving nature of variant classification systems poses the question as to the best strategies for variant
doi:10.5430/jbei.v2n1p91
fatcat:e5ouxxyv6jfstgsf63iyrzy3dm